- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 10/10. (PMID:9500541)
- Incomplete partition of the cochlea type II (HP:0000376): With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation. Evidence: PCS. Frequency: 0/3. (PMID:9500541)
- Enlarged vestibular aqueduct (HP:0011387): Increased size of the vestibular aqueduct. Evidence: PCS. Frequency: 3/3. (PMID:9500541)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 10/10. Onset: Congenital onset (HP:0003577). (PMID:9500541)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:9500541)
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: PCS. Frequency: 0/10. (PMID:9500541)
These phenotypes are associated with the disease autosomal recessive nonsyndromic hearing loss 4 (OMIM:600791).